P56L (p.Pro56Leu) variant of ROS1 (P08922)
P56L (p.Pro56Leu) in ROS1 (P08922) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P56L (p.Pro56Leu) variant details
- p.Pro56Leu
- rs753367775
- ExAC rs753367775
- TOPMed rs753367775
- gnomAD rs753367775
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.09
- MetaLR 0.12
- MetaSVM -0.99
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available